Results 131 to 140 of about 991,885 (339)

Functional Characterization and Pathogenicity Classification of PRRT2 Splice Variants in PRRT2‐Related Disorders

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Paroxysmal kinesigenic dyskinesia (PKD) is the most common hereditary paroxysmal movement disorder. The PRRT2 gene is the first identified causative gene and accounts for the majority of PKD. In this study, we investigated the pathogenicity of PRRT2 variants in the splice regions. Methods Patients with clinically suspected PKD and no
Jiao‐Jiao Xu   +5 more
wiley   +1 more source

Isolation of TFIIIC102 in Arabidopsis thaliana to better understand transcription [PDF]

open access: yes, 2004
only availableIn eukaryotes, transcription is carried out by three RNA polymerases. RNA polymerase I (Pol I) transcribes genes encoding the large rRNAs, RNA Pol II transcribes genes encoding proteins involved in mRNA processing, and RNA Pol III ...
Harrington, Lynne
core  

Systemic T Cell Receptor Profiling Reveals Adaptive Immune Activation and Potential Immune Signatures of Diagnosis and Brain Atrophy in Epilepsy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Epilepsy is increasingly associated with immune dysregulation and inflammation. The T cell receptor (TCR), a key mediator of adaptive immunity, shows repertoire alterations in various immune‐mediated diseases. The unique TCR sequence serves as a molecular barcode for T cells, and clonal expansion accompanied by reduced overall TCR ...
Yong‐Won Shin   +12 more
wiley   +1 more source

Decreased Serum 5‐HT: Clinical Correlates and Regulatory Role in NMJ of MG

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Although 5‐Hydroxytryptamine (5‐HT) indirectly stimulates muscle contraction and participates in regulating Acetylcholine receptor (AChR) cluster homeostasis in cellular, animal, and clinical studies, evidence regarding its potential to modulate muscle contraction in myasthenia gravis (MG) remains limited.
Xinru Shen   +18 more
wiley   +1 more source

Cancer Risk in Patients With Systemic Sclerosis: A Nationwide Cohort Study in South Korea 2004 to 2021

open access: yesArthritis Care &Research, EarlyView.
Objective Systemic sclerosis (SSc) is a rare autoimmune disease characterized by tissue fibrosis, vasculopathy, and immune dysregulation. Our objectives were to quantify the overall and site‐specific cancer risks in patients with SSc compared to the general population, examine temporal trends in cancer incidence following SSc diagnosis, and explore ...
Jihyun Na   +4 more
wiley   +1 more source

RNA Polymerase II Holoenzymes and Subcomplexes [PDF]

open access: yesJournal of Biological Chemistry, 1998
Vic E. Myer, Richard A. Young
openaire   +3 more sources

Development of a personalized visualization and analysis tool to improve clinical care in complex multisystem diseases with application to scleroderma

open access: yesArthritis Care &Research, Accepted Article.
Background In complex diseases, it is challenging to assess a patient's disease state, trajectory, treatment exposures, and risk of multiple outcomes simultaneously, efficiently and at the point of care. Methods We developed an interactive patient‐level data visualization and analysis tool (VAT) that automates illustration of a scleroderma patient's ...
Ji Soo Kim   +18 more
wiley   +1 more source

RRP9 Promotes Esophageal Squamous Cell Carcinoma Progression through E2F1 Transcriptional Regulation of CDK1

open access: yesAdvanced Biology, EarlyView.
The study reveals that RRP9 is abnormally highly expressed in ESCC tissues and is closely associated with poor prognosis in patients. Furthermore, it is found that RRP9 promotes ESCC progression through enhancing the E2F1‐mediated transcriptional regulation of CDK1.
Gang He   +14 more
wiley   +1 more source

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